ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
The condition with the LEAST association with chromosome 22q deletion is
Correct Answer: D
Rationale: All except E (Williams syndrome, linked to 7q deletion) represent a continuum of findings due to chromosome 22q deletion, including cleft palate, cardiac defects, and T-cell dysfunction.
Question 2 of 5
A 13-month-old infant is found comatose in bed after sleeping later than usual. On physical examination, the infant is afebrile and of normal size, and the liver is palpated 4 cm below the costal margin. The plasma glucose level is 15 mg/dL, the bicarbonate level is 20 mEq/L, BUN is 35 mg/dL, ammonia is 295 μmol/L, AST is 320 U/L, ALT is 425 U/L, and bilirubin is normal. Urinalysis is negative for glucose, ketones, protein, and reducing substances. Which of the following is the most likely diagnosis?
Correct Answer: B
Rationale: Type I glycogen storage disease (von Gierke) causes severe hypoglycemia, hepatomegaly, and elevated ammonia/liver enzymes due to glucose-6-phosphatase deficiency.
Question 3 of 5
The mucolipidoses result from the abnormal targeting of lysosomal enzymes to the lysosome. Each statement about the mucolipidoses is correct EXCEPT
Correct Answer: D
Rationale: Not all mucolipidoses (e.g., type III) lead to early childhood death; severity varies.
Question 4 of 5
Appropriate treatment of the child in the previous question before the onset of serious symptoms is helpful in preventing severe retardation. Overtreatment may result in
Correct Answer: D
Rationale: Over-restricting phenylalanine in PKU can lead to protein deficiency, causing anorexia, lethargy, and rash.
Question 5 of 5
In general, albinism is characterized by all of the following EXCEPT
Correct Answer: D
Rationale: Nail hypoplasia is not a feature of albinism; others relate to melanin deficiency.